Identification of misclassified ClinVar variants using disease population prevalence

[1]  K. Eilbeck,et al.  Settling the score: variant prioritization and Mendelian disease , 2017, Nature Reviews Genetics.

[2]  H. Rehm.  A new era in the interpretation of human genomic variation , 2017, Genetics in Medicine.

[3]  S. Berkovic,et al.  ExACtly zero or once , 2017, Neurology: Genetics.

[4]  Keith Nykamp,et al.  Sources of discordance among germ-line variant classifications in ClinVar , 2017, Genetics in Medicine.

[5]  Wyeth W Wasserman,et al.  Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders , 2017, Genetics in Medicine.

[6]  David Haussler,et al.  Consistency of BRCA1 and BRCA2 Variant Classifications Among Clinical Diagnostic Laboratories , 2017, JCO precision oncology.

[7]  P. Allen,et al.  Assessing the pathogenicity of RYR1 variants in malignant hyperthermia. , 2017, British journal of anaesthesia.

[8]  Keith Nykamp,et al.  Pathogenic variant burden in the ExAC database: an empirical approach to evaluating population data for clinical variant interpretation , 2017, Genome Medicine.

[9]  W. Chung,et al.  Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics , 2016, Genetics in Medicine.

[10]  D. MacArthur,et al.  Using high-resolution variant frequencies to empower clinical genome interpretation , 2016, Genetics in Medicine.

[11]  D. MacArthur,et al.  Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples , 2016, Genetics in Medicine.

[12]  Peter Szolovits,et al.  Genetic Misdiagnoses and the Potential for Health Disparities. , 2016, The New England journal of medicine.

[13]  S. Letovsky,et al.  Exploring the landscape of pathogenic genetic variation in the ExAC population database: insights of relevance to variant classification , 2015, Genetics in Medicine.

[14]  Levi C. T. Pierce,et al.  Deep sequencing of 10,000 human genomes , 2016, Proceedings of the National Academy of Sciences.

[15]  Matthew S. Lebo,et al.  Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium. , 2016, American journal of human genetics.

[16]  Sheri D Schully,et al.  A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variation , 2016, Genetics in Medicine.

[17]  J. Ioannidis,et al.  Clinical Genomics: From Pathogenicity Claims to Quantitative Risk Estimates. , 2016, JAMA.

[18]  Euan A. Ashley,et al.  Medical implications of technical accuracy in genome sequencing , 2016, Genome Medicine.

[19]  Michael J Ackerman,et al.  Association of Arrhythmia-Related Genetic Variants With Phenotypes Documented in Electronic Medical Records. , 2016, JAMA.

[20]  Ricardo Villamarín-Salomón,et al.  ClinVar: public archive of interpretations of clinically relevant variants , 2015, Nucleic Acids Res..

[21]  James Y. Zou.  Analysis of protein-coding genetic variation in 60,706 humans , 2015, Nature.

[22]  G. Henderson,et al.  The Promise and Peril of Genomic Screening in the General Population , 2015, Genetics in Medicine.

[23]  Alexa B. R. McIntyre,et al.  Extensive sequencing of seven human genomes to characterize benchmark reference materials , 2015, Scientific Data.

[24]  Heidi L Rehm,et al.  ClinGen--the Clinical Genome Resource. , 2015, The New England journal of medicine.

[25]  H. Rehm,et al.  Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology , 2015, Genetics in Medicine.

[26]  D. Chesher,et al.  The impact of reporting incidental findings from exome and whole-genome sequencing: predicted frequencies based on modeling , 2014, Genetics in Medicine.

[27]  Katherine M. Tucker,et al.  Hereditary paraganglioma‐pheochromocytoma syndromes associated with SDHD and RET mutations , 2014, Head & neck.

[28]  J. Zook,et al.  Integrating human sequence data sets provides a resource of benchmark SNP and indel genotype calls , 2013, Nature Biotechnology.

[29]  J. Mullikin,et al.  Using Exome Data to Identify Malignant Hyperthermia Susceptibility Mutations , 2013, Anesthesiology.

[30]  Marc S. Williams,et al.  ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing , 2013, Genetics in Medicine.

[31]  Balaji S. Srinivasan,et al.  An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals , 2012, Genetics in Medicine.

[32]  C. Tyler-Smith,et al.  Deleterious- and disease-allele prevalence in healthy individuals: insights from current predictions, mutation databases, and population-scale resequencing. , 2012, American journal of human genetics.

[33]  K. Bushby,et al.  Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene‐associated myopathies , 2012, Human mutation.

[34]  F. Dhombres,et al.  Representation of rare diseases in health information systems: The orphanet approach to serve a wide range of end users , 2012, Human mutation.

[35]  Pablo Cingolani,et al.  © 2012 Landes Bioscience. Do not distribute. , 2022 .

[36]  Michael J. Ackerman,et al.  Risk for life-threatening cardiac events in patients with genotype-confirmed long-QT syndrome and normal-range corrected QT intervals. , 2011, Journal of the American College of Cardiology.

[37]  T. Fahey.  Clinical Predictors for Germline Mutations in Head and Neck Paraganglioma Patients: Cost Reduction Strategy in Genetic Diagnostic Process as Fall-Out , 2010 .

[38]  F. Peyvandi,et al.  Factor V Deficiency , 2009, Seminars in thrombosis and hemostasis.

[39]  J. Olynyk,et al.  Clinical penetrance of C282Y homozygous HFE hemochromatosis , 2008, Expert review of hematology.

[40]  D. Tester,et al.  Novel gene and mutation discovery in congenital long QT syndrome: let's keep looking where the street lamp standeth. , 2008, Heart rhythm.

[41]  K. Byth,et al.  Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes. , 2006, The Journal of clinical endocrinology and metabolism.

[42]  J. Beilby,et al.  Genotyping as a diagnostic aid in genetic haemochromatosis , 1999, Journal of gastroenterology and hepatology.

[43]  S. Willatts.  Malignant hyperthermia susceptibility , 1979, Anaesthesia.